ClinVar for Gene (Select 105374155) - ClinVar - NCBI

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Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2534559	NM_005067.7(SIAH2):c.47G>A (p.Ser16Asn)	SIAH2-AS1, SIAH2 (S16N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485625	NM_005067.7(SIAH2):c.41C>A (p.Pro14His)	SIAH2, SIAH2-AS1 (P14H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343497	NM_005067.7(SIAH2):c.80C>G (p.Pro27Arg)	SIAH2, SIAH2-AS1 (P27R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341509	NM_005067.7(SIAH2):c.224C>T (p.Thr75Ile)	SIAH2, SIAH2-AS1 (T75I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278748	NM_005067.7(SIAH2):c.94C>T (p.Pro32Ser)	SIAH2, SIAH2-AS1 (P32S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235034	NM_005067.7(SIAH2):c.35A>G (p.Asn12Ser)	SIAH2, SIAH2-AS1 (N12S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216592	NM_005067.7(SIAH2):c.19A>C (p.Thr7Pro)	SIAH2, SIAH2-AS1 (T7P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215027	NM_005067.7(SIAH2):c.130G>A (p.Gly44Ser)	SIAH2, SIAH2-AS1 (G44S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 60121	GRCh38/hg38 3q25.1(chr3:150462960-150915627)x1	EIF2A, ERICH6 +26 more	Copy number loss	See cases	GUncertain significance
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic